### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IKBKAP) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "IKBKAP" "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein" "9" "q31" "unknown" "NC_000009.11" "UD_132084494996" "" "https://www.LOVD.nl/ELP1" "" "1" "5959" "8518" "603722" "1" "1" "1" "1" "NOTE: gene name changed from IKBKAP to ELP1\r\nThis database is one of the gene variant databases from the:
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. Variants submitted here will be shared with the IPNMDB." "" "g" "http://databases.lovd.nl/shared/refseq/IKBKAP_codingDNA.html" "1" "" "NOTE: gene name changed from IKBKAP to ELP1
\r\nThis database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00002" "2012-05-23 00:00:00" "00006" "2022-10-31 14:21:40" "00006" "2025-11-13 13:04:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000179" "IKBKAP" "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein" "001" "NM_003640.3" "" "NP_003631.2" "" "" "" "-520" "5594" "3999" "111696608" "111629800" "00002" "2012-05-11 13:12:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01429" "MDB" "medulloblastoma (MDB)" "AD;AR;SMu" "155255" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-10-31 14:18:45" "01758" "HSAN3" "neuropathy, sensory and autonomic, hereditary, type III (HSAN-3, dysautonomia)" "AR" "223900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05122" "HSN" "neuropathy, sensory, hereditary (HSN)" "" "" "" "" "" "00006" "2016-01-24 01:36:12" "00006" "2020-04-22 19:42:45" "05383" "HSAN" "neuropathy, sensory and autonomic, hereditary (HSAN)" "" "" "" "" "" "00006" "2018-01-27 17:13:02" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "IKBKAP" "01429" "IKBKAP" "01758" "IKBKAP" "05383" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000059" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00294714" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294715" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294716" "" "" "" "26" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294717" "" "" "" "26" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300073" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00420315" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420316" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420317" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420318" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420319" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420320" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420321" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420322" "" "" "" "2" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH); affected mother/child" "" "" "" "" "0" "" "" "" "SJMBWES366" "00420323" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420324" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420325" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420326" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420327" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420328" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420329" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420330" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420331" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420332" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420333" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420334" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420335" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00420336" "" "" "" "2" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH); 2-generation family, affected mother/child" "" "" "" "" "0" "" "" "" "SJMBWES401" "00420337" "" "" "" "2" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH); affected father/child" "" "" "" "" "0" "" "" "" "SJMBWES339" "00420338" "" "" "" "1" "" "00006" "{PMID:Waszak 2020:32296180}" "analysis 712 pediatric MB cases for germline LoF variants (171 MDB-SHH)" "" "" "" "" "0" "" "" "" "" "00468988" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00294714" "00198" "00294715" "00198" "00294716" "00198" "00294717" "00198" "00300073" "05122" "00420315" "01429" "00420316" "01429" "00420317" "01429" "00420318" "01429" "00420319" "01429" "00420320" "01429" "00420321" "01429" "00420322" "01429" "00420323" "01429" "00420324" "01429" "00420325" "01429" "00420326" "01429" "00420327" "01429" "00420328" "01429" "00420329" "01429" "00420330" "01429" "00420331" "01429" "00420332" "01429" "00420333" "01429" "00420334" "01429" "00420335" "01429" "00420336" "01429" "00420337" "01429" "00420338" "01429" "00468988" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 01429, 01758, 05122, 05383 ## Count = 27 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000227394" "05122" "00300073" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hereditary sensory neuropathy" "" "0000311550" "01429" "00420315" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311551" "01429" "00420316" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311552" "01429" "00420317" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311553" "01429" "00420318" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311554" "01429" "00420319" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311555" "01429" "00420320" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311556" "01429" "00420321" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311557" "01429" "00420322" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311558" "01429" "00420323" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311559" "01429" "00420324" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311560" "01429" "00420325" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311561" "01429" "00420326" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311562" "01429" "00420327" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311563" "01429" "00420328" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311564" "01429" "00420329" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311565" "01429" "00420330" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311566" "01429" "00420331" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311567" "01429" "00420332" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311568" "01429" "00420333" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311569" "01429" "00420334" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311570" "01429" "00420335" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311571" "01429" "00420336" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311572" "01429" "00420337" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000311573" "01429" "00420338" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sonic Hedgehog medulloblastoma" "" "0000354141" "00198" "00468988" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000059" "00000059" "1" "00004" "" "2012-05-11 13:18:53" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000295882" "00294714" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295883" "00294715" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295884" "00294716" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295885" "00294717" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301189" "00300073" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000421590" "00420315" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421591" "00420316" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421592" "00420317" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421593" "00420318" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421594" "00420319" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421595" "00420320" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421596" "00420321" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421597" "00420322" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421598" "00420323" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421599" "00420324" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421600" "00420325" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421601" "00420326" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421602" "00420327" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421603" "00420328" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421604" "00420329" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421605" "00420330" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421606" "00420331" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421607" "00420332" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421608" "00420333" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421609" "00420334" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421610" "00420335" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421611" "00420336" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421612" "00420337" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421613" "00420338" "1" "00006" "00006" "2022-10-31 21:38:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470656" "00468988" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000000059" "ATP7B" "0000000059" "GBA" "0000000059" "GLB1" "0000000059" "IKBKAP" "0000000059" "MEFV" "0000000059" "NPHS1" "0000000059" "SERPINA1" "0000301189" "IKBKAP" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 135 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000001289" "0" "50" "9" "111660945" "111660945" "subst" "0" "00002" "IKBKAP_000001" "g.111660945A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108898665A>C" "" "VUS" "" "0000002486" "0" "50" "9" "111673999" "111674006" "del" "0" "00037" "IKBKAP_000002" "g.111673999_111674006del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108911719_108911726del" "" "VUS" "" "0000246801" "0" "90" "9" "111662096" "111662096" "subst" "0.00063411" "02330" "IKBKAP_000005" "g.111662096A>G" "" "" "" "ELP1(NM_003640.5):c.2204+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108899816A>G" "" "pathogenic" "" "0000246805" "0" "10" "9" "111637230" "111637230" "subst" "0.0145204" "02330" "IKBKAP_000023" "g.111637230A>C" "" "" "" "ELP1(NM_003640.5):c.3876T>G (p.T1292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108874950A>C" "" "benign" "" "0000246806" "0" "10" "9" "111665215" "111665215" "subst" "0.0159344" "02330" "IKBKAP_000006" "g.111665215A>C" "" "" "" "ELP1(NM_003640.5):c.1758T>G (p.P586=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108902935A>C" "" "benign" "" "0000246815" "0" "10" "9" "111651620" "111651620" "subst" "0.193788" "02330" "IKBKAP_000004" "g.111651620A>T" "" "" "" "ELP1(NM_003640.5):c.3214T>A (p.C1072S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108889340A>T" "" "benign" "" "0000246831" "0" "10" "9" "111665962" "111665962" "subst" "0.000105929" "02330" "IKBKAP_000007" "g.111665962A>G" "" "" "" "ELP1(NM_003640.3):c.1644-13T>C, ELP1(NM_003640.5):c.1644-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108903682A>G" "" "benign" "" "0000249619" "0" "90" "9" "111662096" "111662096" "subst" "0.00063411" "02325" "IKBKAP_000005" "g.111662096A>G" "" "" "" "ELP1(NM_003640.5):c.2204+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108899816A>G" "" "pathogenic" "" "0000277977" "0" "10" "9" "111696389" "111696389" "subst" "0" "02330" "IKBKAP_000022" "g.111696389G>C" "" "" "" "ELP1(NM_003640.5):c.-301C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108934109G>C" "" "benign" "" "0000277978" "0" "50" "9" "111673437" "111673437" "subst" "0.000893757" "02330" "IKBKAP_000009" "g.111673437G>A" "" "" "" "ELP1(NM_003640.3):c.1213C>T (p.R405W), ELP1(NM_003640.5):c.1213C>T (p.R405W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108911157G>A" "" "VUS" "" "0000277979" "0" "10" "9" "111673420" "111673420" "subst" "0.00743286" "02330" "IKBKAP_000008" "g.111673420C>T" "" "" "" "ELP1(NM_003640.5):c.1230G>A (p.P410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108911140C>T" "" "benign" "" "0000277980" "0" "10" "9" "111668652" "111668652" "subst" "0.0512916" "02330" "IKBKAP_000042" "g.111668652C>T" "" "" "" "ELP1(NM_003640.5):c.1574G>A (p.R525Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108906372C>T" "" "benign" "" "0000277981" "0" "10" "9" "111692163" "111692163" "subst" "0.01816" "02330" "IKBKAP_000020" "g.111692163G>A" "" "" "" "ELP1(NM_003640.5):c.189C>T (p.L63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108929883G>A" "" "benign" "" "0000277982" "0" "10" "9" "111663793" "111663793" "subst" "0.0716714" "02330" "IKBKAP_000041" "g.111663793C>T" "" "" "" "ELP1(NM_003640.5):c.1926G>A (p.T642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108901513C>T" "" "benign" "" "0000277983" "0" "10" "9" "111663754" "111663754" "subst" "0.0696746" "02330" "IKBKAP_000040" "g.111663754G>A" "" "" "" "ELP1(NM_003640.5):c.1965C>T (p.T655=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108901474G>A" "" "benign" "" "0000277984" "0" "30" "9" "111662644" "111662644" "subst" "0.00123494" "02330" "IKBKAP_000039" "g.111662644C>T" "" "" "" "ELP1(NM_003640.5):c.2026G>A (p.G676S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108900364C>T" "" "likely benign" "" "0000277985" "0" "90" "9" "111662583" "111662583" "subst" "0" "02330" "IKBKAP_000038" "g.111662583C>G" "" "" "" "ELP1(NM_003640.5):c.2087G>C (p.R696P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108900303C>G" "" "pathogenic" "" "0000277986" "0" "10" "9" "111660851" "111660851" "subst" "0.221226" "02330" "IKBKAP_000037" "g.111660851C>T" "" "" "" "ELP1(NM_003640.5):c.2294G>A (p.G765E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108898571C>T" "" "benign" "" "0000277987" "0" "10" "9" "111659483" "111659483" "subst" "0.224098" "02330" "IKBKAP_000036" "g.111659483T>G" "" "" "" "ELP1(NM_003640.5):c.2446A>C (p.I816L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108897203T>G" "" "benign" "" "0000277988" "0" "10" "9" "111659439" "111659439" "subst" "0.0747294" "02330" "IKBKAP_000035" "g.111659439T>C" "" "" "" "ELP1(NM_003640.5):c.2490A>G (p.I830M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108897159T>C" "" "benign" "" "0000277989" "0" "30" "9" "111659277" "111659277" "subst" "0.00248742" "02330" "IKBKAP_000034" "g.111659277G>T" "" "" "" "ELP1(NM_003640.3):c.2543C>A (p.T848N), ELP1(NM_003640.5):c.2543C>A (p.T848N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108896997G>T" "" "likely benign" "" "0000277990" "0" "10" "9" "111659219" "111659219" "subst" "0.0171145" "02330" "IKBKAP_000033" "g.111659219G>A" "" "" "" "ELP1(NM_003640.3):c.2587+14C>T, ELP1(NM_003640.5):c.2587+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108896939G>A" "" "benign" "" "0000277991" "0" "90" "9" "111656342" "111656342" "subst" "0" "02330" "IKBKAP_000032" "g.111656342G>A" "" "" "" "ELP1(NM_003640.5):c.2741C>T (p.P914L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108894062G>A" "" "pathogenic" "" "0000277992" "0" "10" "9" "111656228" "111656228" "subst" "0.0157634" "02330" "IKBKAP_000031" "g.111656228T>A" "" "" "" "ELP1(NM_003640.3):c.2855A>T (p.K952I), ELP1(NM_003640.5):c.2855A>T (p.K952I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108893948T>A" "" "benign" "" "0000277993" "0" "10" "9" "111653574" "111653574" "subst" "0.400869" "02330" "IKBKAP_000030" "g.111653574C>G" "" "" "" "ELP1(NM_003640.5):c.3069G>C (p.L1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108891294C>G" "" "benign" "" "0000277994" "0" "10" "9" "111644396" "111644396" "subst" "0.1427" "02330" "IKBKAP_000028" "g.111644396G>A" "" "" "" "ELP1(NM_003640.5):c.3285+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108882116G>A" "" "benign" "" "0000277995" "0" "10" "9" "111641825" "111641825" "subst" "0.193675" "02330" "IKBKAP_000026" "g.111641825G>A" "" "" "" "ELP1(NM_003640.5):c.3473C>T (p.P1158L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108879545G>A" "" "benign" "" "0000277996" "0" "50" "9" "111641721" "111641721" "subst" "2.03085E-5" "02330" "IKBKAP_000025" "g.111641721C>A" "" "" "" "ELP1(NM_003640.5):c.3572+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108879441C>A" "" "VUS" "" "0000277997" "0" "50" "9" "111689654" "111689654" "subst" "4.06283E-6" "02330" "IKBKAP_000019" "g.111689654G>A" "" "" "" "ELP1(NM_003640.5):c.383C>T (p.T128I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108927374G>A" "" "VUS" "" "0000277998" "0" "50" "9" "111631415" "111631415" "subst" "4.06062E-6" "02330" "IKBKAP_000003" "g.111631415T>G" "" "" "" "ELP1(NM_003640.5):c.3979A>C (p.K1327Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108869135T>G" "" "VUS" "" "0000277999" "0" "10" "9" "111688828" "111688828" "subst" "0.0943587" "02330" "IKBKAP_000018" "g.111688828C>T" "" "" "" "ELP1(NM_003640.5):c.441G>A (p.Q147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108926548C>T" "" "benign" "" "0000278001" "0" "10" "9" "111679965" "111679965" "dup" "0" "02330" "IKBKAP_000016" "g.111679965dup" "" "" "" "ELP1(NM_003640.5):c.741-15dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108917685dup" "" "benign" "" "0000278002" "0" "10" "9" "111679940" "111679940" "subst" "0.0176764" "02330" "IKBKAP_000014" "g.111679940T>C" "" "" "" "ELP1(NM_003640.3):c.751A>G (p.S251G), ELP1(NM_003640.5):c.751A>G (p.S251G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108917660T>C" "" "benign" "" "0000278003" "0" "10" "9" "111679872" "111679872" "subst" "0.0735332" "02330" "IKBKAP_000013" "g.111679872G>A" "" "" "" "ELP1(NM_003640.5):c.819C>T (p.L273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108917592G>A" "" "benign" "" "0000278004" "0" "10" "9" "111678508" "111678508" "subst" "0.0189468" "02330" "IKBKAP_000012" "g.111678508C>T" "" "" "" "ELP1(NM_003640.3):c.934G>A (p.E312K), ELP1(NM_003640.5):c.934G>A (p.E312K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108916228C>T" "" "benign" "" "0000278005" "0" "10" "9" "111678477" "111678477" "subst" "3.2491E-5" "02330" "IKBKAP_000011" "g.111678477G>A" "" "" "" "ELP1(NM_003640.5):c.958+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108916197G>A" "" "benign" "" "0000278006" "0" "10" "9" "111674789" "111674789" "subst" "0.0182915" "02330" "IKBKAP_000010" "g.111674789G>A" "" "" "" "ELP1(NM_003640.3):c.959-15C>T, ELP1(NM_003640.5):c.959-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108912509G>A" "" "benign" "" "0000278007" "0" "50" "9" "111693332" "111693332" "subst" "1.6243E-5" "02330" "IKBKAP_000021" "g.111693332G>A" "" "" "" "ELP1(NM_003640.5):c.95C>T (p.T32M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108931052G>A" "" "VUS" "" "0000281504" "0" "90" "9" "111662583" "111662583" "subst" "0" "02325" "IKBKAP_000038" "g.111662583C>G" "" "" "" "ELP1(NM_003640.5):c.2087G>C (p.R696P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108900303C>G" "" "pathogenic" "" "0000281505" "0" "10" "9" "111653574" "111653574" "subst" "0.400869" "02325" "IKBKAP_000030" "g.111653574C>G" "" "" "" "ELP1(NM_003640.5):c.3069G>C (p.L1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108891294C>G" "" "benign" "" "0000285184" "0" "30" "9" "111659277" "111659277" "subst" "0.00248742" "02326" "IKBKAP_000034" "g.111659277G>T" "" "" "" "ELP1(NM_003640.3):c.2543C>A (p.T848N), ELP1(NM_003640.5):c.2543C>A (p.T848N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108896997G>T" "" "likely benign" "" "0000285185" "0" "30" "9" "111659219" "111659219" "subst" "0.0171145" "02326" "IKBKAP_000033" "g.111659219G>A" "" "" "" "ELP1(NM_003640.3):c.2587+14C>T, ELP1(NM_003640.5):c.2587+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108896939G>A" "" "likely benign" "" "0000285186" "0" "10" "9" "111656228" "111656228" "subst" "0.0157634" "02326" "IKBKAP_000031" "g.111656228T>A" "" "" "" "ELP1(NM_003640.3):c.2855A>T (p.K952I), ELP1(NM_003640.5):c.2855A>T (p.K952I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108893948T>A" "" "benign" "" "0000285187" "0" "30" "9" "111651598" "111651598" "subst" "0.000504032" "02326" "IKBKAP_000029" "g.111651598G>A" "" "" "" "ELP1(NM_003640.3):c.3222+14C>T, ELP1(NM_003640.5):c.3222+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108889318G>A" "" "likely benign" "" "0000285188" "0" "30" "9" "111642460" "111642460" "subst" "0.00115853" "02326" "IKBKAP_000027" "g.111642460T>C" "" "" "" "ELP1(NM_003640.3):c.3347-15A>G, ELP1(NM_003640.5):c.3347-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108880180T>C" "" "likely benign" "" "0000285189" "0" "30" "9" "111641037" "111641037" "subst" "0.000117828" "02326" "IKBKAP_000024" "g.111641037G>C" "" "" "" "ELP1(NM_003640.3):c.3573-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108878757G>C" "" "likely benign" "" "0000285190" "0" "10" "9" "111679940" "111679940" "subst" "0.0176764" "02326" "IKBKAP_000014" "g.111679940T>C" "" "" "" "ELP1(NM_003640.3):c.751A>G (p.S251G), ELP1(NM_003640.5):c.751A>G (p.S251G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108917660T>C" "" "benign" "" "0000285191" "0" "10" "9" "111678508" "111678508" "subst" "0.0189468" "02326" "IKBKAP_000012" "g.111678508C>T" "" "" "" "ELP1(NM_003640.3):c.934G>A (p.E312K), ELP1(NM_003640.5):c.934G>A (p.E312K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108916228C>T" "" "benign" "" "0000285192" "0" "10" "9" "111674789" "111674789" "subst" "0.0182915" "02326" "IKBKAP_000010" "g.111674789G>A" "" "" "" "ELP1(NM_003640.3):c.959-15C>T, ELP1(NM_003640.5):c.959-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108912509G>A" "" "benign" "" "0000289546" "0" "50" "9" "111681568" "111681568" "subst" "0" "01943" "IKBKAP_000017" "g.111681568T>C" "" "" "" "IKBKAP(NM_003640.3):c.614A>G (p.Q205R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108919288T>C" "" "VUS" "" "0000535997" "0" "30" "9" "111625629" "111625629" "subst" "0.0228124" "01804" "IKBKAP_000043" "g.111625629C>G" "" "" "" "ACTL7A(NM_006687.2):c.1027C>G (p.(Leu343Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108863349C>G" "" "likely benign" "" "0000535998" "0" "50" "9" "111644410" "111644410" "subst" "0.000846582" "02330" "IKBKAP_000044" "g.111644410T>C" "" "" "" "ELP1(NM_003640.3):c.3280A>G (p.R1094G), ELP1(NM_003640.5):c.3280A>G (p.R1094G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108882130T>C" "" "VUS" "" "0000535999" "0" "30" "9" "111651598" "111651598" "subst" "0.000504032" "02330" "IKBKAP_000029" "g.111651598G>A" "" "" "" "ELP1(NM_003640.3):c.3222+14C>T, ELP1(NM_003640.5):c.3222+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108889318G>A" "" "likely benign" "" "0000536000" "0" "10" "9" "111653606" "111653606" "subst" "0.00769344" "02330" "IKBKAP_000045" "g.111653606C>T" "" "" "" "ELP1(NM_003640.5):c.3037G>A (p.G1013S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108891326C>T" "" "benign" "" "0000536001" "0" "50" "9" "111653612" "111653612" "subst" "2.03688E-5" "02330" "IKBKAP_000046" "g.111653612G>A" "" "" "" "ELP1(NM_003640.5):c.3031C>T (p.R1011C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108891332G>A" "" "VUS" "" "0000536002" "0" "50" "9" "111656258" "111656258" "subst" "0.000561208" "02330" "IKBKAP_000047" "g.111656258C>T" "" "" "" "ELP1(NM_003640.3):c.2825G>A (p.R942Q), ELP1(NM_003640.5):c.2825G>A (p.R942Q, p.(Arg942Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108893978C>T" "" "VUS" "" "0000536003" "0" "50" "9" "111656280" "111656280" "subst" "3.6611E-5" "02330" "IKBKAP_000048" "g.111656280T>A" "" "" "" "ELP1(NM_003640.3):c.2803A>T (p.T935S), ELP1(NM_003640.5):c.2803A>T (p.T935S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108894000T>A" "" "VUS" "" "0000536004" "0" "50" "9" "111658841" "111658841" "subst" "0" "02330" "IKBKAP_000049" "g.111658841A>G" "" "" "" "ELP1(NM_003640.5):c.2671T>C (p.Y891H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108896561A>G" "" "VUS" "" "0000536005" "0" "10" "9" "111658881" "111658881" "subst" "0.00194399" "02330" "IKBKAP_000050" "g.111658881G>A" "" "" "" "ELP1(NM_003640.5):c.2631C>T (p.A877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108896601G>A" "" "benign" "" "0000536007" "0" "30" "9" "111681591" "111681591" "subst" "4.06121E-6" "02330" "IKBKAP_000051" "g.111681591T>C" "" "" "" "ELP1(NM_003640.5):c.591A>G (p.Q197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108919311T>C" "" "likely benign" "" "0000536008" "0" "10" "9" "111685129" "111685129" "subst" "0.0152403" "02330" "IKBKAP_000052" "g.111685129A>T" "" "" "" "ELP1(NM_003640.5):c.545T>A (p.M182K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108922849A>T" "" "benign" "" "0000536009" "0" "50" "9" "111693404" "111693404" "subst" "2.84259E-5" "02330" "IKBKAP_000053" "g.111693404C>T" "" "" "" "ELP1(NM_003640.3):c.23G>A (p.R8Q), ELP1(NM_003640.5):c.23G>A (p.R8Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108931124C>T" "" "VUS" "" "0000536010" "0" "10" "9" "111696214" "111696214" "subst" "0" "02330" "IKBKAP_000054" "g.111696214A>C" "" "" "" "ELP1(NM_003640.5):c.-126T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108933934A>C" "" "benign" "" "0000611809" "0" "50" "9" "111656258" "111656258" "subst" "0.000561208" "02326" "IKBKAP_000047" "g.111656258C>T" "" "" "" "ELP1(NM_003640.3):c.2825G>A (p.R942Q), ELP1(NM_003640.5):c.2825G>A (p.R942Q, p.(Arg942Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108893978C>T" "" "VUS" "" "0000611810" "0" "50" "9" "111656280" "111656280" "subst" "3.6611E-5" "02326" "IKBKAP_000048" "g.111656280T>A" "" "" "" "ELP1(NM_003640.3):c.2803A>T (p.T935S), ELP1(NM_003640.5):c.2803A>T (p.T935S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108894000T>A" "" "VUS" "" "0000611811" "0" "30" "9" "111659582" "111659582" "subst" "2.84655E-5" "02326" "IKBKAP_000055" "g.111659582A>G" "" "" "" "ELP1(NM_003640.3):c.2364-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108897302A>G" "" "likely benign" "" "0000611812" "0" "50" "9" "111663930" "111663930" "subst" "0.00195122" "02330" "IKBKAP_000056" "g.111663930C>T" "" "" "" "ELP1(NM_003640.3):c.1886G>A (p.R629H), ELP1(NM_003640.5):c.1886G>A (p.R629H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108901650C>T" "" "VUS" "" "0000611813" "0" "30" "9" "111673297" "111673297" "subst" "4.06081E-6" "02330" "IKBKAP_000057" "g.111673297A>G" "" "" "" "ELP1(NM_003640.5):c.1353T>C (p.Y451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108911017A>G" "" "likely benign" "" "0000611814" "0" "30" "9" "111674590" "111674590" "subst" "0.000495468" "02330" "IKBKAP_000058" "g.111674590C>T" "" "" "" "ELP1(NM_003640.5):c.1143G>A (p.V381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108912310C>T" "" "likely benign" "" "0000611815" "0" "50" "9" "111685181" "111685181" "subst" "0" "02330" "IKBKAP_000059" "g.111685181T>C" "" "" "" "ELP1(NM_003640.5):c.493A>G (p.R165G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108922901T>C" "" "VUS" "" "0000611816" "0" "30" "9" "111692066" "111692066" "subst" "0.000706616" "02330" "IKBKAP_000060" "g.111692066T>C" "" "" "" "ELP1(NM_003640.5):c.286A>G (p.S96G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108929786T>C" "" "likely benign" "" "0000611817" "0" "30" "9" "111692143" "111692143" "subst" "0.00125474" "02330" "IKBKAP_000061" "g.111692143C>T" "" "" "" "ELP1(NM_003640.3):c.209G>A (p.R70H), ELP1(NM_003640.5):c.209G>A (p.R70H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108929863C>T" "" "likely benign" "" "0000652571" "1" "50" "9" "111673437" "111673437" "subst" "0.000893757" "03575" "IKBKAP_000009" "g.111673437G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs139703788}" "Germline" "" "rs139703788" "0" "" "" "g.108911157G>A" "" "VUS" "" "0000652572" "1" "50" "9" "111674660" "111674660" "subst" "8.12216E-5" "03575" "IKBKAP_000062" "g.111674660C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs139091484}" "Germline" "" "rs139091484" "0" "" "" "g.108912380C>T" "" "VUS" "" "0000652573" "1" "50" "9" "111678508" "111678508" "subst" "0.0189468" "03575" "IKBKAP_000012" "g.111678508C>T" "26/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 26 heterozygous, no homozygous; {DB:CLININrs1140064}" "Germline" "" "rs1140064" "0" "" "" "g.108916228C>T" "" "VUS" "" "0000652574" "1" "50" "9" "111679940" "111679940" "subst" "0.0176764" "03575" "IKBKAP_000014" "g.111679940T>C" "26/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 26 heterozygous, no homozygous; {DB:CLININrs17853166}" "Germline" "" "rs17853166" "0" "" "" "g.108917660T>C" "" "VUS" "" "0000656197" "0" "30" "9" "111642460" "111642460" "subst" "0.00115853" "02330" "IKBKAP_000027" "g.111642460T>C" "" "" "" "ELP1(NM_003640.3):c.3347-15A>G, ELP1(NM_003640.5):c.3347-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108880180T>C" "" "likely benign" "" "0000656198" "0" "50" "9" "111660982" "111660982" "subst" "1.22072E-5" "02330" "IKBKAP_000063" "g.111660982T>C" "" "" "" "ELP1(NM_003640.5):c.2252A>G (p.N751S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108898702T>C" "" "VUS" "" "0000656199" "0" "30" "9" "111663808" "111663808" "subst" "0.000479651" "02326" "IKBKAP_000064" "g.111663808A>G" "" "" "" "ELP1(NM_003640.3):c.1911T>C (p.V637=), ELP1(NM_003640.5):c.1911T>C (p.V637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108901528A>G" "" "likely benign" "" "0000664084" "0" "70" "9" "111662604" "111662604" "subst" "4.87468E-5" "00006" "IKBKAP_000065" "g.111662604C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs201742754" "0" "" "" "g.108900324C>T" "" "likely pathogenic (recessive)" "" "0000678503" "0" "30" "9" "111644410" "111644410" "subst" "0.000846582" "02326" "IKBKAP_000044" "g.111644410T>C" "" "" "" "ELP1(NM_003640.3):c.3280A>G (p.R1094G), ELP1(NM_003640.5):c.3280A>G (p.R1094G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690365" "0" "50" "9" "111642368" "111642368" "subst" "1.62466E-5" "01943" "IKBKAP_000066" "g.111642368G>A" "" "" "" "ELP1(NM_003640.3):c.3424C>T (p.R1142*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690366" "0" "50" "9" "111651621" "111651621" "subst" "0.000455225" "02330" "IKBKAP_000067" "g.111651621C>G" "" "" "" "ELP1(NM_003640.5):c.3213G>C (p.E1071D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690367" "0" "50" "9" "111656297" "111656297" "subst" "4.07621E-6" "02330" "IKBKAP_000068" "g.111656297G>C" "" "" "" "ELP1(NM_003640.5):c.2786C>G (p.T929S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690368" "0" "50" "9" "111659268" "111659268" "subst" "0" "01943" "IKBKAP_000069" "g.111659268A>C" "" "" "" "ELP1(NM_003640.3):c.2552T>G (p.L851R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722204" "0" "50" "9" "111653600" "111653600" "subst" "2.03601E-5" "02330" "IKBKAP_000070" "g.111653600G>A" "" "" "" "ELP1(NM_003640.5):c.3043C>T (p.H1015Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722205" "0" "30" "9" "111674605" "111674605" "subst" "1.21829E-5" "02330" "IKBKAP_000071" "g.111674605C>T" "" "" "" "ELP1(NM_003640.5):c.1128G>A (p.T376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722206" "0" "30" "9" "111674620" "111674620" "subst" "4.06085E-6" "02330" "IKBKAP_000072" "g.111674620A>G" "" "" "" "ELP1(NM_003640.5):c.1113T>C (p.Y371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803824" "0" "30" "9" "111663808" "111663808" "subst" "0.000479651" "02330" "IKBKAP_000064" "g.111663808A>G" "" "" "" "ELP1(NM_003640.3):c.1911T>C (p.V637=), ELP1(NM_003640.5):c.1911T>C (p.V637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803825" "0" "50" "9" "111665866" "111665866" "subst" "2.03303E-5" "02330" "IKBKAP_000073" "g.111665866C>T" "" "" "" "ELP1(NM_003640.5):c.1727G>A (p.G576D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803826" "0" "10" "9" "111674716" "111674716" "subst" "0.00284721" "02326" "IKBKAP_000074" "g.111674716G>T" "" "" "" "ELP1(NM_003640.3):c.1017C>A (p.S339R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852066" "0" "30" "9" "111661038" "111661038" "subst" "3.6862E-5" "02330" "IKBKAP_000075" "g.111661038A>C" "" "" "" "ELP1(NM_003640.5):c.2205-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882553" "0" "70" "9" "111640394" "111640394" "dup" "0" "00006" "IKBKAP_000079" "g.111640394dup" "" "{PMID:Waszak 2020:32296180}" "" "3738dupT" "" "Germline" "" "" "0" "" "" "g.108878114dup" "" "likely pathogenic" "" "0000882554" "0" "70" "9" "111640902" "111640902" "subst" "0" "00006" "IKBKAP_000080" "g.111640902C>T" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108878622C>T" "" "likely pathogenic" "" "0000882555" "0" "70" "9" "111640961" "111640961" "dup" "0" "00006" "IKBKAP_000081" "g.111640961dup" "" "{PMID:Waszak 2020:32296180}" "" "3643dupG" "" "Germline" "" "" "0" "" "" "g.108878681dup" "" "likely pathogenic" "" "0000882556" "0" "70" "9" "111641008" "111641008" "subst" "4.06095E-6" "00006" "IKBKAP_000082" "g.111641008T>A" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108878728T>A" "" "likely pathogenic" "" "0000882557" "0" "70" "9" "111641011" "111641011" "subst" "1.6245E-5" "00006" "IKBKAP_000083" "g.111641011G>A" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108878731G>A" "" "likely pathogenic" "" "0000882558" "0" "70" "9" "111641025" "111641025" "del" "0" "00006" "IKBKAP_000084" "g.111641025del" "" "{PMID:Waszak 2020:32296180}" "" "3578delC" "" "Germline" "" "" "0" "" "" "g.108878745del" "" "likely pathogenic" "" "0000882559" "0" "70" "9" "111641725" "111641725" "subst" "8.12308E-6" "00006" "IKBKAP_000085" "g.111641725C>T" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108879445C>T" "" "likely pathogenic" "" "0000882560" "21" "70" "9" "111653685" "111653685" "subst" "0" "00006" "IKBKAP_000077" "g.111653685C>A" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108891405C>A" "" "likely pathogenic" "" "0000882561" "0" "70" "9" "111655288" "111655288" "subst" "0" "00006" "IKBKAP_000086" "g.111655288G>C" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108893008G>C" "" "likely pathogenic" "" "0000882562" "0" "70" "9" "111658781" "111658781" "subst" "0" "00006" "IKBKAP_000087" "g.111658781G>A" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108896501G>A" "" "likely pathogenic" "" "0000882563" "0" "70" "9" "111658855" "111658855" "dup" "0" "00006" "IKBKAP_000088" "g.111658855dup" "" "{PMID:Waszak 2020:32296180}" "" "2657dupA" "" "Germline" "" "" "0" "" "" "g.108896575dup" "" "likely pathogenic" "" "0000882564" "0" "70" "9" "111659430" "111659430" "dup" "0" "00006" "IKBKAP_000090" "g.111659430dup" "" "{PMID:Waszak 2020:32296180}" "" "2499dupT" "" "Germline" "" "" "0" "" "" "g.108897150dup" "" "likely pathogenic" "" "0000882565" "0" "70" "9" "111662627" "111662628" "del" "0" "00006" "IKBKAP_000091" "g.111662627_111662628del" "" "{PMID:Waszak 2020:32296180}" "" "2042_2043delAT" "" "Germline" "" "" "0" "" "" "g.108900347_108900348del" "" "likely pathogenic" "" "0000882566" "0" "70" "9" "111663941" "111663942" "ins" "0" "00006" "IKBKAP_000092" "g.111663941_111663942insAA" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108901661_108901662insAA" "" "likely pathogenic" "" "0000882567" "0" "70" "9" "111673421" "111673421" "subst" "1.21857E-5" "00006" "IKBKAP_000093" "g.111673421G>A" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108911141G>A" "" "likely pathogenic" "" "0000882568" "0" "70" "9" "111674660" "111674660" "dup" "0" "00006" "IKBKAP_000095" "g.111674660dup" "" "{PMID:Waszak 2020:32296180}" "" "1074dupG" "" "Germline" "" "" "0" "" "" "g.108912380dup" "" "likely pathogenic" "" "0000882569" "0" "70" "9" "111674668" "111674669" "dup" "0" "00006" "IKBKAP_000096" "g.111674668_111674669dup" "" "{PMID:Waszak 2020:32296180}" "" "1066_1067dupCC" "" "Germline" "" "" "0" "" "" "g.108912388_108912389dup" "" "likely pathogenic" "" "0000882570" "0" "70" "9" "111679951" "111679951" "subst" "0" "00006" "IKBKAP_000098" "g.111679951C>A" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108917671C>A" "" "likely pathogenic" "" "0000882571" "0" "70" "9" "111681533" "111681533" "subst" "0" "00006" "IKBKAP_000099" "g.111681533C>T" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108919253C>T" "" "likely pathogenic" "" "0000882572" "0" "70" "9" "111681543" "111681543" "del" "0" "00006" "IKBKAP_000100" "g.111681543del" "" "{PMID:Waszak 2020:32296180}" "" "641delC" "" "Germline" "" "" "0" "" "" "g.108919263del" "" "likely pathogenic" "" "0000882573" "0" "70" "9" "111681572" "111681572" "subst" "0" "00006" "IKBKAP_000101" "g.111681572C>A" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108919292C>A" "" "likely pathogenic" "" "0000882574" "21" "70" "9" "111689725" "111689725" "subst" "8.1285E-6" "00006" "IKBKAP_000076" "g.111689725A>T" "" "{PMID:Waszak 2020:32296180}" "" "" "" "Germline" "" "" "0" "" "" "g.108927445A>T" "" "likely pathogenic" "" "0000882575" "11" "70" "9" "111693289" "111693289" "dup" "0" "00006" "IKBKAP_000078" "g.111693289dup" "" "{PMID:Waszak 2020:32296180}" "" "138dupT" "" "Germline" "" "" "0" "" "" "g.108931009dup" "" "likely pathogenic" "" "0000882576" "0" "70" "9" "111658893" "111670616" "del" "0" "00006" "IKBKAP_000089" "g.(?_111658893)_(111670616_?)del" "" "{PMID:Waszak 2020:32296180}" "" "del ex13-25 (111658893-111670616)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000888570" "0" "30" "9" "111663930" "111663930" "subst" "0.00195122" "02326" "IKBKAP_000056" "g.111663930C>T" "" "" "" "ELP1(NM_003640.3):c.1886G>A (p.R629H), ELP1(NM_003640.5):c.1886G>A (p.R629H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888571" "0" "30" "9" "111665962" "111665962" "subst" "0.000105929" "02326" "IKBKAP_000007" "g.111665962A>G" "" "" "" "ELP1(NM_003640.3):c.1644-13T>C, ELP1(NM_003640.5):c.1644-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888572" "0" "50" "9" "111674606" "111674606" "subst" "2.84271E-5" "02330" "IKBKAP_000094" "g.111674606G>A" "" "" "" "ELP1(NM_003640.5):c.1127C>T (p.T376M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888573" "0" "50" "9" "111674748" "111674748" "subst" "0" "02330" "IKBKAP_000097" "g.111674748G>C" "" "" "" "ELP1(NM_003640.5):c.985C>G (p.H329D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924938" "0" "30" "9" "111692143" "111692143" "subst" "0.00125474" "02326" "IKBKAP_000061" "g.111692143C>T" "" "" "" "ELP1(NM_003640.3):c.209G>A (p.R70H), ELP1(NM_003640.5):c.209G>A (p.R70H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949169" "0" "90" "9" "111655274" "111655274" "subst" "0" "02327" "IKBKAP_000102" "g.111655274G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965128" "0" "30" "9" "111673437" "111673437" "subst" "0.000893757" "02326" "IKBKAP_000009" "g.111673437G>A" "" "" "" "ELP1(NM_003640.3):c.1213C>T (p.R405W), ELP1(NM_003640.5):c.1213C>T (p.R405W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965129" "0" "30" "9" "111678494" "111678494" "subst" "0.000495484" "02330" "IKBKAP_000103" "g.111678494C>T" "" "" "" "ELP1(NM_003640.5):c.948G>A (p.P316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978348" "0" "50" "9" "111673436" "111673436" "subst" "2.03105E-5" "01804" "IKBKAP_000104" "g.111673436C>T" "" "" "" "ELP1(NM_003640.5):c.1214G>A (p.(Arg405Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978349" "0" "50" "9" "111688798" "111688798" "subst" "0" "01804" "IKBKAP_000105" "g.111688798C>G" "" "" "" "ELP1(NM_003640.5):c.466+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997447" "0" "50" "9" "111688842" "111688842" "subst" "8.14478E-6" "02330" "IKBKAP_000106" "g.111688842T>C" "" "" "" "ELP1(NM_003640.5):c.427A>G (p.I143V, p.(Ile143Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014491" "0" "30" "9" "111663805" "111663805" "subst" "9.3518E-5" "02330" "IKBKAP_000107" "g.111663805C>T" "" "" "" "ELP1(NM_003640.5):c.1914G>A (p.A638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030877" "0" "30" "9" "111659492" "111659492" "subst" "5.28417E-5" "03779" "IKBKAP_000108" "g.111659492C>T" "" "" "" "" "" "Unknown" "" "rs528801644" "0" "" "" "" "" "likely benign" "" "0001037128" "0" "50" "9" "111656258" "111656258" "subst" "0.000561208" "01804" "IKBKAP_000047" "g.111656258C>T" "" "" "" "ELP1(NM_003640.3):c.2825G>A (p.R942Q), ELP1(NM_003640.5):c.2825G>A (p.R942Q, p.(Arg942Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037129" "0" "50" "9" "111670607" "111670609" "del" "0" "01804" "IKBKAP_000109" "g.111670607_111670609del" "" "" "" "ELP1(NM_003640.5):c.1439_1441del (p.(Pro480del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037130" "0" "30" "9" "111679513" "111679513" "subst" "0" "01804" "IKBKAP_000110" "g.111679513A>T" "" "" "" "ELP1(NM_003640.5):c.864+314T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037131" "0" "50" "9" "111688842" "111688842" "subst" "8.14478E-6" "01804" "IKBKAP_000106" "g.111688842T>C" "" "" "" "ELP1(NM_003640.5):c.427A>G (p.I143V, p.(Ile143Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037132" "0" "50" "9" "111693404" "111693404" "subst" "2.84259E-5" "02326" "IKBKAP_000053" "g.111693404C>T" "" "" "" "ELP1(NM_003640.3):c.23G>A (p.R8Q), ELP1(NM_003640.5):c.23G>A (p.R8Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058778" "0" "90" "9" "111662096" "111662096" "subst" "0.00063411" "00006" "IKBKAP_000005" "g.111662096A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.108899816A>G" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes IKBKAP ## Count = 135 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000001289" "00000179" "50" "2283" "6" "2283" "6" "c.2283+6T>G" "r.(=)" "p.(=)" "" "0000002486" "00000179" "50" "1189" "539" "1190" "-538" "c.1189+539_1190-538del" "r.(=)" "p.(=)" "" "0000246801" "00000179" "90" "2204" "6" "2204" "6" "c.2204+6T>C" "r.(=)" "p.(=)" "" "0000246805" "00000179" "10" "3876" "0" "3876" "0" "c.3876T>G" "r.(?)" "p.(Thr1292=)" "" "0000246806" "00000179" "10" "1758" "0" "1758" "0" "c.1758T>G" "r.(?)" "p.(Pro586=)" "" "0000246815" "00000179" "10" "3214" "0" "3214" "0" "c.3214T>A" "r.(?)" "p.(Cys1072Ser)" "" "0000246831" "00000179" "10" "1644" "-13" "1644" "-13" "c.1644-13T>C" "r.(=)" "p.(=)" "" "0000249619" "00000179" "90" "2204" "6" "2204" "6" "c.2204+6T>C" "r.(=)" "p.(=)" "" "0000277977" "00000179" "10" "-301" "0" "-301" "0" "c.-301C>G" "r.(?)" "p.(=)" "" "0000277978" "00000179" "50" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405Trp)" "" "0000277979" "00000179" "10" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Pro410=)" "" "0000277980" "00000179" "10" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Arg525Gln)" "" "0000277981" "00000179" "10" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Leu63=)" "" "0000277982" "00000179" "10" "1926" "0" "1926" "0" "c.1926G>A" "r.(?)" "p.(Thr642=)" "" "0000277983" "00000179" "10" "1965" "0" "1965" "0" "c.1965C>T" "r.(?)" "p.(Thr655=)" "" "0000277984" "00000179" "30" "2026" "0" "2026" "0" "c.2026G>A" "r.(?)" "p.(Gly676Ser)" "" "0000277985" "00000179" "90" "2087" "0" "2087" "0" "c.2087G>C" "r.(?)" "p.(Arg696Pro)" "" "0000277986" "00000179" "10" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Gly765Glu)" "" "0000277987" "00000179" "10" "2446" "0" "2446" "0" "c.2446A>C" "r.(?)" "p.(Ile816Leu)" "" "0000277988" "00000179" "10" "2490" "0" "2490" "0" "c.2490A>G" "r.(?)" "p.(Ile830Met)" "" "0000277989" "00000179" "30" "2543" "0" "2543" "0" "c.2543C>A" "r.(?)" "p.(Thr848Asn)" "" "0000277990" "00000179" "10" "2587" "14" "2587" "14" "c.2587+14C>T" "r.(=)" "p.(=)" "" "0000277991" "00000179" "90" "2741" "0" "2741" "0" "c.2741C>T" "r.(?)" "p.(Pro914Leu)" "" "0000277992" "00000179" "10" "2855" "0" "2855" "0" "c.2855A>T" "r.(?)" "p.(Lys952Ile)" "" "0000277993" "00000179" "10" "3069" "0" "3069" "0" "c.3069G>C" "r.(?)" "p.(Leu1023=)" "" "0000277994" "00000179" "10" "3285" "9" "3285" "9" "c.3285+9C>T" "r.(=)" "p.(=)" "" "0000277995" "00000179" "10" "3473" "0" "3473" "0" "c.3473C>T" "r.(?)" "p.(Pro1158Leu)" "" "0000277996" "00000179" "50" "3572" "5" "3572" "5" "c.3572+5G>T" "r.spl?" "p.?" "" "0000277997" "00000179" "50" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Thr128Ile)" "" "0000277998" "00000179" "50" "3979" "0" "3979" "0" "c.3979A>C" "r.(?)" "p.(Lys1327Gln)" "" "0000277999" "00000179" "10" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Gln147=)" "" "0000278001" "00000179" "10" "741" "-15" "741" "-15" "c.741-15dup" "r.(=)" "p.(=)" "" "0000278002" "00000179" "10" "751" "0" "751" "0" "c.751A>G" "r.(?)" "p.(Ser251Gly)" "" "0000278003" "00000179" "10" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Leu273=)" "" "0000278004" "00000179" "10" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Glu312Lys)" "" "0000278005" "00000179" "10" "958" "7" "958" "7" "c.958+7C>T" "r.(=)" "p.(=)" "" "0000278006" "00000179" "10" "959" "-15" "959" "-15" "c.959-15C>T" "r.(=)" "p.(=)" "" "0000278007" "00000179" "50" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Thr32Met)" "" "0000281504" "00000179" "90" "2087" "0" "2087" "0" "c.2087G>C" "r.(?)" "p.(Arg696Pro)" "" "0000281505" "00000179" "10" "3069" "0" "3069" "0" "c.3069G>C" "r.(?)" "p.(Leu1023=)" "" "0000285184" "00000179" "30" "2543" "0" "2543" "0" "c.2543C>A" "r.(?)" "p.(Thr848Asn)" "" "0000285185" "00000179" "30" "2587" "14" "2587" "14" "c.2587+14C>T" "r.(=)" "p.(=)" "" "0000285186" "00000179" "10" "2855" "0" "2855" "0" "c.2855A>T" "r.(?)" "p.(Lys952Ile)" "" "0000285187" "00000179" "30" "3222" "14" "3222" "14" "c.3222+14C>T" "r.(=)" "p.(=)" "" "0000285188" "00000179" "30" "3347" "-15" "3347" "-15" "c.3347-15A>G" "r.(=)" "p.(=)" "" "0000285189" "00000179" "30" "3573" "-7" "3573" "-7" "c.3573-7C>G" "r.(=)" "p.(=)" "" "0000285190" "00000179" "10" "751" "0" "751" "0" "c.751A>G" "r.(?)" "p.(Ser251Gly)" "" "0000285191" "00000179" "10" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Glu312Lys)" "" "0000285192" "00000179" "10" "959" "-15" "959" "-15" "c.959-15C>T" "r.(=)" "p.(=)" "" "0000289546" "00000179" "50" "614" "0" "614" "0" "c.614A>G" "r.(?)" "p.(Gln205Arg)" "" "0000535997" "00000179" "30" "9765" "0" "9765" "0" "c.*5766G>C" "r.(=)" "p.(=)" "" "0000535998" "00000179" "50" "3280" "0" "3280" "0" "c.3280A>G" "r.(?)" "p.(Arg1094Gly)" "" "0000535999" "00000179" "30" "3222" "14" "3222" "14" "c.3222+14C>T" "r.(=)" "p.(=)" "" "0000536000" "00000179" "10" "3037" "0" "3037" "0" "c.3037G>A" "r.(?)" "p.(Gly1013Ser)" "" "0000536001" "00000179" "50" "3031" "0" "3031" "0" "c.3031C>T" "r.(?)" "p.(Arg1011Cys)" "" "0000536002" "00000179" "50" "2825" "0" "2825" "0" "c.2825G>A" "r.(?)" "p.(Arg942Gln)" "" "0000536003" "00000179" "50" "2803" "0" "2803" "0" "c.2803A>T" "r.(?)" "p.(Thr935Ser)" "" "0000536004" "00000179" "50" "2671" "0" "2671" "0" "c.2671T>C" "r.(?)" "p.(Tyr891His)" "" "0000536005" "00000179" "10" "2631" "0" "2631" "0" "c.2631C>T" "r.(?)" "p.(Ala877=)" "" "0000536007" "00000179" "30" "591" "0" "591" "0" "c.591A>G" "r.(?)" "p.(Gln197=)" "" "0000536008" "00000179" "10" "545" "0" "545" "0" "c.545T>A" "r.(?)" "p.(Met182Lys)" "" "0000536009" "00000179" "50" "23" "0" "23" "0" "c.23G>A" "r.(?)" "p.(Arg8Gln)" "" "0000536010" "00000179" "10" "-126" "0" "-126" "0" "c.-126T>G" "r.(?)" "p.(=)" "" "0000611809" "00000179" "50" "2825" "0" "2825" "0" "c.2825G>A" "r.(?)" "p.(Arg942Gln)" "" "0000611810" "00000179" "50" "2803" "0" "2803" "0" "c.2803A>T" "r.(?)" "p.(Thr935Ser)" "" "0000611811" "00000179" "30" "2364" "-17" "2364" "-17" "c.2364-17T>C" "r.(=)" "p.(=)" "" "0000611812" "00000179" "50" "1886" "0" "1886" "0" "c.1886G>A" "r.(?)" "p.(Arg629His)" "" "0000611813" "00000179" "30" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(Tyr451=)" "" "0000611814" "00000179" "30" "1143" "0" "1143" "0" "c.1143G>A" "r.(?)" "p.(Val381=)" "" "0000611815" "00000179" "50" "493" "0" "493" "0" "c.493A>G" "r.(?)" "p.(Arg165Gly)" "" "0000611816" "00000179" "30" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Ser96Gly)" "" "0000611817" "00000179" "30" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70His)" "" "0000652571" "00000179" "50" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405Trp)" "" "0000652572" "00000179" "50" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Arg358Gln)" "" "0000652573" "00000179" "50" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Glu312Lys)" "" "0000652574" "00000179" "50" "751" "0" "751" "0" "c.751A>G" "r.(?)" "p.(Ser251Gly)" "" "0000656197" "00000179" "30" "3347" "-15" "3347" "-15" "c.3347-15A>G" "r.(=)" "p.(=)" "" "0000656198" "00000179" "50" "2252" "0" "2252" "0" "c.2252A>G" "r.(?)" "p.(Asn751Ser)" "" "0000656199" "00000179" "30" "1911" "0" "1911" "0" "c.1911T>C" "r.(?)" "p.(Val637=)" "" "0000664084" "00000179" "70" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "" "0000678503" "00000179" "30" "3280" "0" "3280" "0" "c.3280A>G" "r.(?)" "p.(Arg1094Gly)" "" "0000690365" "00000179" "50" "3424" "0" "3424" "0" "c.3424C>T" "r.(?)" "p.(Arg1142Ter)" "" "0000690366" "00000179" "50" "3213" "0" "3213" "0" "c.3213G>C" "r.(?)" "p.(Glu1071Asp)" "" "0000690367" "00000179" "50" "2786" "0" "2786" "0" "c.2786C>G" "r.(?)" "p.(Thr929Ser)" "" "0000690368" "00000179" "50" "2552" "0" "2552" "0" "c.2552T>G" "r.(?)" "p.(Leu851Arg)" "" "0000722204" "00000179" "50" "3043" "0" "3043" "0" "c.3043C>T" "r.(?)" "p.(His1015Tyr)" "" "0000722205" "00000179" "30" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Thr376=)" "" "0000722206" "00000179" "30" "1113" "0" "1113" "0" "c.1113T>C" "r.(?)" "p.(Tyr371=)" "" "0000803824" "00000179" "30" "1911" "0" "1911" "0" "c.1911T>C" "r.(?)" "p.(Val637=)" "" "0000803825" "00000179" "50" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Gly576Asp)" "" "0000803826" "00000179" "10" "1017" "0" "1017" "0" "c.1017C>A" "r.(?)" "p.(Ser339Arg)" "" "0000852066" "00000179" "30" "2205" "-9" "2205" "-9" "c.2205-9T>G" "r.(=)" "p.(=)" "" "0000882553" "00000179" "70" "3738" "0" "3738" "0" "c.3738dup" "r.(?)" "p.(Glu1247Ter)" "" "0000882554" "00000179" "70" "3700" "1" "3700" "1" "c.3700+1G>A" "r.spl" "p.?" "" "0000882555" "00000179" "70" "3643" "0" "3643" "0" "c.3643dup" "r.(?)" "p.(Asp1215GlyfsTer10)" "" "0000882556" "00000179" "70" "3595" "0" "3595" "0" "c.3595A>T" "r.(?)" "p.(Lys1199Ter)" "" "0000882557" "00000179" "70" "3592" "0" "3592" "0" "c.3592C>T" "r.(?)" "p.(Arg1198Ter)" "" "0000882558" "00000179" "70" "3578" "0" "3578" "0" "c.3578del" "r.(?)" "p.(Ser1193TyrfsTer30)" "" "0000882559" "00000179" "70" "3572" "1" "3572" "1" "c.3572+1G>A" "r.spl" "p.?" "" "0000882560" "00000179" "70" "2959" "-1" "2959" "-1" "c.2959-1G>T" "r.spl" "p.?" "" "0000882561" "00000179" "70" "2936" "0" "2936" "0" "c.2936C>G" "r.(?)" "p.(Ser979Ter)" "" "0000882562" "00000179" "70" "2731" "0" "2731" "0" "c.2731C>T" "r.(?)" "p.(Gln911Ter)" "" "0000882563" "00000179" "70" "2657" "0" "2657" "0" "c.2657dup" "r.(?)" "p.(Asp886GlufsTer3)" "" "0000882564" "00000179" "70" "2499" "0" "2499" "0" "c.2499dup" "r.(?)" "p.(Lys834Ter)" "" "0000882565" "00000179" "70" "2042" "0" "2043" "0" "c.2042_2043del" "r.(?)" "p.(His681ArgfsTer58)" "" "0000882566" "00000179" "70" "1875" "0" "1876" "0" "c.1875_1876insTT" "r.(?)" "p.(Asp626LeufsTer29)" "" "0000882567" "00000179" "70" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Pro410Leu)" "" "0000882568" "00000179" "70" "1074" "0" "1074" "0" "c.1074dup" "r.(?)" "p.(Leu359AlafsTer14)" "" "0000882569" "00000179" "70" "1066" "0" "1067" "0" "c.1066_1067dup" "r.(?)" "p.(Tyr357HisfsTer46)" "" "0000882570" "00000179" "70" "741" "-1" "741" "-1" "c.741-1G>T" "r.spl" "p.?" "" "0000882571" "00000179" "70" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Gly217Arg)" "" "0000882572" "00000179" "70" "641" "0" "641" "0" "c.641del" "r.(?)" "p.(Pro214GlnfsTer39)" "" "0000882573" "00000179" "70" "610" "0" "610" "0" "c.610G>T" "r.(?)" "p.(Gly204Ter)" "" "0000882574" "00000179" "70" "312" "0" "312" "0" "c.312T>A" "r.(?)" "p.(Cys104Ter)" "" "0000882575" "00000179" "70" "138" "0" "138" "0" "c.138dup" "r.(?)" "p.(Val47CysfsTer8)" "" "0000882576" "00000179" "70" "1429" "0" "2619" "0" "c.(?_1429)_(2619_?)del" "r.?" "p.?" "" "0000888570" "00000179" "30" "1886" "0" "1886" "0" "c.1886G>A" "r.(?)" "p.(Arg629His)" "" "0000888571" "00000179" "30" "1644" "-13" "1644" "-13" "c.1644-13T>C" "r.(=)" "p.(=)" "" "0000888572" "00000179" "50" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "" "0000888573" "00000179" "50" "985" "0" "985" "0" "c.985C>G" "r.(?)" "p.(His329Asp)" "" "0000924938" "00000179" "30" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70His)" "" "0000949169" "00000179" "90" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Gln984*)" "" "0000965128" "00000179" "30" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405Trp)" "" "0000965129" "00000179" "30" "948" "0" "948" "0" "c.948G>A" "r.(?)" "p.(=)" "" "0000978348" "00000179" "50" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405Gln)" "" "0000978349" "00000179" "50" "466" "5" "466" "5" "c.466+5G>C" "r.spl?" "p.?" "" "0000997447" "00000179" "50" "427" "0" "427" "0" "c.427A>G" "r.(?)" "p.(Ile143Val)" "" "0001014491" "00000179" "30" "1914" "0" "1914" "0" "c.1914G>A" "r.(?)" "p.(=)" "" "0001030877" "00000179" "30" "2437" "0" "2437" "0" "c.2437G>A" "r.(?)" "p.(Gly813Arg)" "" "0001037128" "00000179" "50" "2825" "0" "2825" "0" "c.2825G>A" "r.(?)" "p.(Arg942Gln)" "" "0001037129" "00000179" "50" "1439" "0" "1441" "0" "c.1439_1441del" "r.(?)" "p.(Pro480del)" "" "0001037130" "00000179" "30" "864" "314" "864" "314" "c.864+314T>A" "r.(=)" "p.(=)" "" "0001037131" "00000179" "50" "427" "0" "427" "0" "c.427A>G" "r.(?)" "p.(Ile143Val)" "" "0001037132" "00000179" "50" "23" "0" "23" "0" "c.23G>A" "r.(?)" "p.(Arg8Gln)" "" "0001058778" "00000179" "90" "2204" "6" "2204" "6" "c.2204+6T>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000000059" "0000001289" "0000000209" "0000002486" "0000295882" "0000652571" "0000295883" "0000652572" "0000295884" "0000652573" "0000295885" "0000652574" "0000301189" "0000664084" "0000421590" "0000882553" "0000421591" "0000882554" "0000421592" "0000882555" "0000421593" "0000882556" "0000421594" "0000882557" "0000421595" "0000882558" "0000421596" "0000882559" "0000421597" "0000882560" "0000421598" "0000882561" "0000421599" "0000882562" "0000421600" "0000882563" "0000421601" "0000882564" "0000421602" "0000882565" "0000421603" "0000882566" "0000421604" "0000882567" "0000421605" "0000882568" "0000421606" "0000882569" "0000421607" "0000882570" "0000421608" "0000882571" "0000421609" "0000882572" "0000421610" "0000882573" "0000421611" "0000882574" "0000421612" "0000882575" "0000421613" "0000882576" "0000470656" "0001058778"